Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review

• Главные авторы: Yizhou Huang (Автор), Han Dai (Автор), Gangyi Yang (Автор), Lili Zhang (Автор), Shiyao Xue (Автор), Min Zhu (Автор)
• Формат: ‌
• Опубликовано: BMC, 2021-10-01T00:00:00Z.
• Предметы: article
• Online-ссылка: Connect to this object online.

Abstract Background Congenital disorders of glycosylation (CDG) are a group of metabolic diseases with clinical and genetic heterogeneity, and CDG-IIg is one of the rare reported types of CDG. The aim of this study is to report the clinical manifestations and gene-phenotype characteristics of a rare...